Canonical Allele Identifier: CA391298783

Gene: NIPA1

Linked Data

• gnomAD v4: 15-22786781-A-C
• MyVariant Identifiers: chr15:g.23086287T>G (hg19) ; chr15:g.22786781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786781A>C , CM000677.2:g.22786781A>C	GRCh38
NC_000015.9:g.23086287T>G , CM000677.1:g.23086287T>G	GRCh37
NC_000015.8:g.20637728T>G	NCBI36
NG_009056.1:g.5557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.125A>C MANE Select	ENSP00000337452.4:p.Asn42Thr
ENST00000337435.8:c.125A>C	ENSP00000337452.4:p.Asn42Thr
ENST00000437912.6:c.-48+12468A>C	ENSP00000393962.2:n.-48+12468A>C
ENST00000559448.5:c.15A>C
ENST00000560069.5:n.31+533A>C
ENST00000560105.1:n.24A>C
ENST00000561183.5:c.-48+533A>C	ENSP00000453722.1:n.-48+533A>C
NM_001142275.1:c.-48+533A>C	NP_001135747.1:n.-48+533A>C
NM_144599.4:c.125A>C	NP_653200.2:p.Asn42Thr
NM_144599.5:c.125A>C MANE Select	NP_653200.2:p.Asn42Thr